A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4283987



Internal ID20464849
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:49306207..49656313hg38UCSC Ensembl
chr22:49702132..50049961hg19UCSC Ensembl
Cytoband22q13.33
Allele length
AssemblyAllele length
hg38350107
hg19347830
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15965805
Samples
Known GenesC22orf34
MethodSequencing
AnalysisSV calls were generated using multi-algorithm consensus pipeline involving raw evidence assessment, filtering, clustering, genotyping, alternative allele structure resolution, and gene annotation. These methods are described in detail in the gnomAD-SV preprint [Collins*, Brand*, et al., bioRxiv (2019)|https://www.biorxiv.org/content/10.1101/578674v1], and are largely based on methods developed in [Werling et al., Nat. Genet. (2018)|https://www.ncbi.nlm.nih.gov/pubmed/29700473].
Platform
Comments
ReferencegnomAD_Structural_Variants
Pubmed ID32461652
Accession Number(s)nsv4283987
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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